LOX gene

lysyl oxidase

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a member of the lysyl oxidase family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate a regulatory propeptide and the mature enzyme. The copper-dependent amine oxidase activity of this enzyme functions in the crosslinking of collagens and elastin, while the propeptide may play a role in tumor suppression. In addition, defects in this gene have been linked with predisposition to thoracic aortic aneurysms and dissections. [provided by RefSeq, Jul 2016]

From UniProt:

Responsible for the post-translational oxidative deamination of peptidyl lysine residues in precursors to fibrous collagen and elastin (PubMed:26838787). Regulator of Ras expression. May play a role in tumor suppression. Plays a role in the aortic wall architecture.

From NCBI Gene:

  • AORTIC ANEURYSM, FAMILIAL THORACIC 10

From UniProt:

Aortic aneurysm, familial thoracic 10 (AAT10): A form of thoracic aortic aneurysm, a disease characterized by permanent dilation of the thoracic aorta usually due to degenerative changes in the aortic wall. It is primarily associated with a characteristic histologic appearance known as 'medial necrosis' or 'Erdheim cystic medial necrosis' in which there is degeneration and fragmentation of elastic fibers, loss of smooth muscle cells, and an accumulation of basophilic ground substance. [MIM:617168]

Cytogenetic Location: 5q23.1, which is the long (q) arm of chromosome 5 at position 23.1

Molecular Location: base pairs 122,063,195 to 122,078,501 on chromosome 5 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 5q23.1, which is the long (q) arm of chromosome 5 at position 23.1